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Article

Expanding the Genotypic and Phenotypic Spectrum of OFD1-Related Conditions: Three More Cases.

Genes - 20 Dec 2024

Kyian Tatiana, Borovikov Artem, Anisimova Inga, Ryzhkova Oksana, Bulakh Maria, Bragina Elizabeth, Avakyan Maria, Demchenko Anna, Zabnenkova Victoria, Kovalev Victor, Bukhonin Artem, Kondratyeva Elena, Kutsev Sergey

Abstract excerpt

INTRODUCTION: Pathogenic variants in the OFD1 gene are linked to a spectrum of syndromes that exhibit partial clinical overlap. Hemizygous loss-of-function variants are considered lethal in males, while heterozygous loss-of-function variants generally result in oro-facial-digital syndrome type 1. A reported phenotype, Simpson-Golabi-Behmel syndrome type 2, was published once but remains controversial, with many...

Topics

Female
Humans
Male
Arrhythmias, Cardiac
Exome Sequencing
Genetic Diseases, X-Linked
Genotype
Gigantism
Heart Defects, Congenital
Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Intellectual Disability

Orofaciodigital Syndromes

Pedigree

Phenotype

Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 39766900
DOI: 10.3390/genes15121633
PMCID: PMC11675874

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-39766900-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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